ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

1 OMIM reference -
3 associated genes
11 signs/symptoms

Junctional epidermolysis bullosa inversa

Junctional epidermolysis bullosa, Herlitz type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMC2 LAMC2	(0.52) (0.52)	LAMA3 LAMB3

Citations in the biomedical literature:

Junctional epidermolysis bullosa inversa		Junctional epidermolysis bullosa, Herlitz type
	Synonym(s): - EBJ-I - Inverse JEB - JEB-I		Synonym(s): - Epidermolysis bullosa letalis - JEB-H - Junctional epidermolysis bullosa generalisata gravis - Junctional epidermolysis bullosa, Herlitz-Pearson type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal fingernails - Autosomal recessive inheritance

Junctional epidermolysis bullosa inversa		Junctional epidermolysis bullosa, Herlitz type
	Very frequent - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Dehydration / hydroelectrolytic loss - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay Occasional - Alopecia - Onycholysis - Syndactyly of fingers / interdigital palm - Syndactyly of toes